Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients

SeqOne, CentoCloud, and Franklin had the highest performance in automated variant prioritization, as they prioritized all variants. In relation to automated classification, Franklin showed a higher concordance with the reference and a lower number of discordances with clinical implications. In conclusion, Franklin emerges as the platform with the best overall performance. Anyway, further studies are needed to confirm these results.